U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC101929710, CAST
+1 more
(R391* +1 more)
Single nucleotide variant
(nonsense +1 more)
Obesity
GLikely pathogenic
NAV3
(Q222*)
Single nucleotide variant
(nonsense)
Hearing impairment
+6 more
GUncertain significance
SLC32A1
(L374P)
Single nucleotide variant
(missense variant)
Mild global developmental delay
+2 more
GUncertain significance
SREBF1
(V725I +11 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+1 more
GConflicting classifications of pathogenicity
NR0B2, NUDC
(N176K)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
GHRL, GHRLOS
(K34fs +4 more)
Deletion
(frameshift variant)
Obesity
GUncertain significance
MC4R
(M91R)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
MC4R
(Q43K)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
MC3R
(V51L)
Single nucleotide variant
(missense variant)
Obesity
GLikely benign
ZNF532, LOC126862765
(V1086fs +6 more)
Duplication
(frameshift variant +1 more)
Autism
+1 more
GUncertain significance
PRTG
(P541R)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
MYH10
(R749* +3 more)
Single nucleotide variant
(nonsense)
Obesity
+4 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
ENPP1
Insertion
(intron variant)
not provided
+5 more
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+5 more
GLikely benign
ENPP1
(N199D)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ENPP1
(Y451C)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
POMC
(R145H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NR0B2, NUDC
(R238C)
Single nucleotide variant
(missense variant)
Inherited obesity
+2 more
GUncertain significance
LOC129933280, POMC
(M60fs)
Deletion
(frameshift variant)
Obesity
GLikely pathogenic
KSR2
(R838C)
Single nucleotide variant
(missense variant)
Hyperlipidemia
+5 more
GUncertain significance
UCP3
(R308W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
UCP3
(M129T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
UCP3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNMT3A
(C326* +3 more)
Single nucleotide variant
(nonsense +1 more)
Obesity
+6 more
GPathogenic
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
FBXO25, USP17L4
+22 more
Copy number loss
Single transverse palmar crease
+6 more
GPathogenic
CDR2, EEF2K
+9 more
Copy number loss
Impulsivity
+4 more
GPathogenic
SIM1
(D273N)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
ENPP1
(R782*)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic
ENPP1
Duplication
(intron variant)
not provided
+5 more
GBenign/Likely benign
ENPP1
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+5 more
GLikely benign
ADRB3
(N338S)
Single nucleotide variant
(missense variant)
Obesity
+2 more
GUncertain significance
ADRB3
(K151R)
Single nucleotide variant
(missense variant)
Obesity
+2 more
GUncertain significance
AGRP, ATP6V0D1-DT
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
PIAS4, SHD
+12 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
UCP3
(D164N)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
BDNF, BDNF-AS
(C186Y +4 more)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
DIP2C
(R88W)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+1 more
GUncertain significance
ENPP1
(I567V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PPARG
(S19fs +2 more)
Deletion
(frameshift variant +1 more)
Obesity
GLikely pathogenic
ENPP1
Deletion
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+4 more
GBenign
MC4R
(Y35* +1 more)
Single nucleotide variant
(nonsense +1 more)
Obesity
GPathogenic
ENPP1
(G229S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
+4 more
GUncertain significance
ENPP1
(V794I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
PPARG
Single nucleotide variant
(3 prime UTR variant +1 more)
PPARG-related familial partial lipodystrophy
+2 more
GConflicting classifications of pathogenicity
LOC114803475, PPARG
(R240Q +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
+5 more
GConflicting classifications of pathogenicity
PPARG
(D21A +2 more)
Single nucleotide variant
(missense variant +1 more)
INSULIN RESISTANCE, DIGENIC
+2 more
GUncertain significance
PPARG
(D146G +3 more)
Single nucleotide variant
(missense variant)
INSULIN RESISTANCE, DIGENIC
+3 more
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
INSULIN RESISTANCE, DIGENIC
+2 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GUncertain significance
POMC
(Y221C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
Obesity due to pro-opiomelanocortin deficiency
+1 more
GUncertain significance
POMC
(T39M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMC
(S95G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POMC
(P132A)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+3 more
GConflicting classifications of pathogenicity
LOC108167315, POMC
Single nucleotide variant
Obesity due to pro-opiomelanocortin deficiency
+1 more
GUncertain significance
POMC
(A164V)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
(A213V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MC4R
(I125V)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MC4R
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MC4R
(M215I)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
(A219S)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
(P272R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
MC4R
(C279Y)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
(R310K)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GBenign
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
(I317F)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
ENPP1
Deletion
(splice donor variant)
not provided
+5 more
GUncertain significance
CDKAL1
Single nucleotide variant
(intron variant)
Obesity
Grisk factor
Single nucleotide variant
Obesity
Grisk factor
Single nucleotide variant
Obesity
Grisk factor
UCP3
(A122V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
NR0B2, NUDC
(S158N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
UCP3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MC4R
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
UCP3
(R119Q)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GLikely benign
POMC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
UCP3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ENPP1
Single nucleotide variant
(synonymous variant)
Obesity
+6 more
GLikely benign
MC4R
(T112M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
(F87L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NR0B2, NUDC
(F76fs)
Deletion
(frameshift variant)
Obesity
GPathogenic
NR0B2, NUDC
(L98fs)
Indel
(frameshift variant)
Obesity
GLikely pathogenic
LOC126806660, ULK4
Deletion
Obesity
GUncertain significance
POMC
(R145C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination